Ocular Manifestations of Congenital/Inherited Diseases

This 9-year-old girl, who had complained of recurrent spontaneous bleeding from the palate and slight swelling and increased warmth over the left cheek, was found to have Wyburn-Mason syndrome. Image 1993_16 shows a small area of arteriovenous shunt on the left optic disc in this patient, who has normal visual function. Image 1993_17 demonstrates the cause of the recurrent gum bleeding, which was an arteriovenous malformation, with a large venous sac that was supplied by the distal palatine artery, a branch from the external carotid artery. Images 1993_18, 1993_19, and 1993_20 are of the lateral internal carotid artery, and anteroposterior vertebral angiogram demonstrates the extensive arteriovenous malformation intracranially as well as in the orbital apex in the same case. Disease/Diagnosis: Wyburn-Mason Syndrome.